T37A (p.Thr37Ala) variant of SRD5A2 (P31213)
T37A (p.Thr37Ala) in SRD5A2 (P31213) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
T37A (p.Thr37Ala) variant details
- p.Thr37Ala
- ExAC rs782140524
- TOPMed rs782140524
- gnomAD rs782140524
- Uncertain significance
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.079
- CADD 0.20
- PolyPhen-2 0.00
- SIFT 0.97
- ClinVar: Uncertain significance (3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency)
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available